1b4r
From Proteopedia
(New page: 200px<br /> <applet load="1b4r" size="450" color="white" frame="true" align="right" spinBox="true" caption="1b4r" /> '''PKD DOMAIN 1 FROM HUMAN POLYCYSTEIN-1'''<br...) |
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'''PKD DOMAIN 1 FROM HUMAN POLYCYSTEIN-1'''<br /> | '''PKD DOMAIN 1 FROM HUMAN POLYCYSTEIN-1'''<br /> | ||
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==About this Structure== | ==About this Structure== | ||
| - | 1B4R is a [http://en.wikipedia.org/wiki/Single_protein Single protein] structure of sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http:// | + | 1B4R is a [http://en.wikipedia.org/wiki/Single_protein Single protein] structure of sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1B4R OCA]. |
==Reference== | ==Reference== | ||
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[[Category: polycystin (precursor)]] | [[Category: polycystin (precursor)]] | ||
| - | ''Page seeded by [http:// | + | ''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Fri Feb 15 15:30:41 2008'' |
Revision as of 13:30, 15 February 2008
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PKD DOMAIN 1 FROM HUMAN POLYCYSTEIN-1
Contents |
Overview
Most cases of autosomal dominant polycystic kidney disease (ADPKD) are the, result of mutations in the PKD1 gene. The PKD1 gene codes for a large, cell-surface glycoprotein, polycystin-1, of unknown function, which, based, on its predicted domain structure, may be involved in protein-protein and, protein-carbohydrate interactions. Approximately 30% of polycystin-1, consists of 16 copies of a novel protein module called the PKD domain., Here we show that this domain has a beta-sandwich fold. Although this fold, is common to a number of cell-surface modules, the PKD domain represents a, distinct protein family. The tenth PKD domain of human and Fugu, polycystin-1 show extensive conservation of surface residues suggesting, that this region could be a ligand-binding site. This structure will allow, the likely effects of missense mutations in a large part of the PKD1 gene, to be determined.
Disease
Known disease associated with this structure: Polycystic kidney disease, adult type I OMIM:[601313]
About this Structure
1B4R is a Single protein structure of sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
The structure of a PKD domain from polycystin-1: implications for polycystic kidney disease., Bycroft M, Bateman A, Clarke J, Hamill SJ, Sandford R, Thomas RL, Chothia C, EMBO J. 1999 Jan 15;18(2):297-305. PMID:9889186
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